Canonical Allele Identifier: CA472922258

Gene: TPP1

Linked Data

• gnomAD v4: 11-6615222-G-C
• MyVariant Identifiers: chr11:g.6636453G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615222G>C , CM000673.2:g.6615222G>C	GRCh38
NC_000011.9:g.6636453G>C , CM000673.1:g.6636453G>C	GRCh37
NC_000011.8:g.6593029G>C	NCBI36
NG_008653.1:g.9240C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1260C>G	ENSP00000507321.1:p.Gly420=
ENST00000299427.12:c.1374C>G MANE Select	ENSP00000299427.6:p.Gly458=
ENST00000524611.2:n.234C>G
ENST00000524924.2:n.494C>G
ENST00000533371.6:c.645C>G	ENSP00000437066.1:p.Gly215=
ENST00000642892.1:c.645C>G	ENSP00000494165.1:p.Gly215=
ENST00000643342.1:c.447C>G
ENST00000643439.1:c.*1114C>G	ENSP00000495849.1:n.*1114C>G
ENST00000643479.1:n.1560C>G
ENST00000643516.1:c.883C>G
ENST00000644218.1:c.1185C>G	ENSP00000493574.1:p.Gly395=
ENST00000644683.1:c.*827C>G	ENSP00000494085.1:n.*827C>G
ENST00000644810.1:c.1095C>G	ENSP00000495895.1:p.Gly365=
ENST00000644831.1:n.1550C>G
ENST00000644933.1:c.*240C>G	ENSP00000496133.1:n.*240C>G
ENST00000645285.1:c.*240C>G	ENSP00000495058.1:n.*240C>G
ENST00000645331.1:n.2579C>G
ENST00000645620.1:c.645C>G	ENSP00000493657.1:p.Gly215=
ENST00000646691.1:n.1261C>G
ENST00000646777.1:n.1707C>G
ENST00000647016.1:n.1854C>G
ENST00000647152.1:c.645C>G	ENSP00000495893.1:p.Gly215=
ENST00000647209.1:c.*1243C>G	ENSP00000495558.1:n.*1243C>G
ENST00000647346.1:n.2394C>G
ENST00000299427.10:c.1374C>G	ENSP00000299427.6:p.Gly458=
ENST00000524611.1:n.252C>G
ENST00000532191.1:n.427C>G
ENST00000533371.5:c.645C>G	ENSP00000437066.1:p.Gly215=
ENST00000611494.4:c.1374C>G	ENSP00000484546.1:p.Gly458=
NM_000391.3:c.1374C>G	NP_000382.3:p.Gly458=
NM_000391.4:c.1374C>G MANE Select	NP_000382.3:p.Gly458=